A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449093



Internal ID15296042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38817847..38817847hg38UCSC Ensembl
Innerchr8:38817846..38817848hg38UCSC Ensembl
Outerchr8:38817797..38817897hg38UCSC Ensembl
chr8:38675365..38675365hg19UCSC Ensembl
Innerchr8:38675364..38675366hg19UCSC Ensembl
Outerchr8:38675315..38675415hg19UCSC Ensembl
chr8:38794522..38794522hg18UCSC Ensembl
Innerchr8:38794523..38794521hg18UCSC Ensembl
Outerchr8:38794472..38794572hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381112
hg191112
hg181112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741334
SamplesNA19240
Known GenesTACC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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